PUBLICATION

Lens development depends on a pair of highly conserved Sox21 regulatory elements

Authors
Pauls, S., Smith, S.F., and Elgar, G.
ID
ZDB-PUB-120306-21
Date
2012
Source
Developmental Biology   365(1): 310-318 (Journal)
Registered Authors
Elgar, Greg, Pauls, Stefan, Smith, Sarah
Keywords
Sox21, conserved non-coding elements, lens, zebrafish, enhancer
MeSH Terms
  • Genome
  • Lens, Crystalline/embryology*
  • Lens, Crystalline/physiology
  • Gene Expression Regulation, Developmental
  • Zebrafish/embryology*
  • Zebrafish Proteins/physiology*
  • Animals
  • Regulatory Sequences, Nucleic Acid*
  • Conserved Sequence
  • SOXB2 Transcription Factors/physiology*
(all 10)
PubMed
22387845 Full text @ Dev. Biol.
Abstract

Highly conserved non-coding elements (CNEs) linked to genes involved in embryonic development have been hypothesised to correspond to cis-regulatory modules due to their ability to induce tissue-specific expression patterns. However, attempts to prove their requirement for normal development or for the correct expression of the genes they are associated with have yielded conflicting results. Here, we show that CNEs at the vertebrate Sox21 locus are crucial for Sox21 expression in the embryonic lens and that loss of Sox21 function interferes with normal lens development. Using different expression assays in zebrafish we find that two CNEs linked to Sox21 in all vertebrates contain lens enhancers and that their removal from a reporter BAC abolishes lens expression. Furthermore inhibition of Sox21 function after the injection of a sox21b morpholino into zebrafish leads to defects in lens development. These findings identify a direct link between sequence conservation and genomic function of regulatory sequences. In addition to this we provide evidence that putative Sox binding sites in one of the CNEs are essential for induction of lens expression as well as enhancer function in the CNS. Our results show that CNEs identified in pufferfish-mammal whole-genome comparisons are crucial developmental enhancers and hence essential components of gene regulatory networks underlying vertebrate embryogenesis.

Genes / Markers
Figures
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Expression
Phenotype
Mutations / Transgenics
Allele Construct Type Affected Genomic Region
nim6TgTransgenic Insertion
    nim7TgTransgenic Insertion
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      Human Disease / Model
      No data available
      Sequence Targeting Reagents
      Target Reagent Reagent Type
      sox21bMO1-sox21bMRPHLNO
      1 - 1 of 1
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      Fish
      1 - 4 of 4
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      Antibodies
      No data available
      Orthology
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      Engineered Foreign Genes
      Marker Marker Type Name
      GFPEFGGFP
      1 - 1 of 1
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      Mapping
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